Výsledky vyhledávání - "Juan C, Llerena"

Akademický článek

Fetal Skeletal Lethal Dysplasia: Case Report Displasia Esquelética Letal Fetal: Relato de Caso

Autor: Alexandre Mello Savoldi, Maria Auxiliadora Monteiro Villar, Heloisa Novaes Machado, Juan C. Llerena Júnior

Publikováno v: Revista Brasileira de Ginecologia e Obstetrícia, Vol 39, Iss 10, Pp 576-582 (2017)

Abstract The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia (SD), demand a multidisciplinary approach coordinated by an ex

Externí odkaz: https://doaj.org/article/679159e5b19e4fea848c10f24e810433

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Akademický článek

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Autor: Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 62-68 (2017)

Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and

Externí odkaz: https://doaj.org/article/d106bbd7c24241ee85e1b7be302c0ab4

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High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias

Autor: Sayonara Gonzalez, Maria Celia C Zuma, Fernanda Rolemberg G Riba, Maria E.S. Gomes, Juan C. Llerena, Natana Chaves Rabelo, Andre Luiz Mencalha

Publikováno v: Genetic Testing and Molecular Biomarkers. 25:674-682

Background: Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) ta...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a9a23a5283524253e68710c0f1b5c697
https://doi.org/10.1089/gtmb.2020.0330

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Autor: Nathan Thibault, Sonia S. Maruti, Karien Verhulst, Roberto Araujo, Matthias Boentert, David W. Stockton, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Barry J. Byrne, Mark Roberts, Kenneth I. Berger

Publikováno v: Journal of Neurology, 267(10), 3038-3053. D. Steinkopff-Verlag
Journal of Neurology

Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7129c65af5acf6525e67244183ba9e9
https://doi.org/10.1007/s00415-020-09936-8

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A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

Autor: Ida Vanessa Doederlein Schwartz, Juan C. Llerena, Candice Beatriz Treter Gonçalves, Tiago Veiga Pereira, Bárbara Côrrea Krug, Alícia Dorneles Dornelles, Priya S. Kishnani, Haliton Alves de Oliveira, Ana Paula Pedroso Junges

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 4828, p 4828 (2021)

Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1caca7d9bcdfa9b03f9a719cca10d93
https://pubmed.ncbi.nlm.nih.gov/34768348

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Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

Autor: Liane de Rosso Giuliani, Paula de Almeida Thomazinho, Carolina Fishinger Moura de Souza, Dafne Dain Gandelman Horovitz, Ana Maria Martins, Juan C. Llerena, Regina Célia Beltrão Duarte, Maria Da Glória Cruvinel Horta, Eliana Pelissari, Lilian Stewart, Heloíse Helena Siqueira Borges

Publikováno v: Open Journal of Clinical Diagnostics. :16-32

Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35937c14aade857025d39afdf2c1c196
https://doi.org/10.4236/ojcd.2019.91002

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Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

Autor: Dafne Horovitz, Juan C. Llerena, Maria E.S. Gomes, Maria Teresa Vieira Sanseverino, Gabriela Ferraz Leal, Ernesto Raul Caffarena, Deborah Antunes, Têmis Maria Félix, Denise P. Cavalcanti, Valeria R. Moura, Sayonara Gonzalez, Luiza Calatrava Paternostro

Publikováno v: Molecular Syndromology. 10:255-263

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the RMRP gene and characterized by metaphyseal bone dysplasia associated with hypotrichosis, immunodeficiency, and predisposition to malignan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d37e3556a4ad42fb025e6a3db84b070d
https://doi.org/10.1159/000501892

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